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Loss of Asxl1 alters self-renewal and cell fate of bone marrow stromal cell, leading to Bohring-Opitz-like syndrome in mice.
implicate Asxl1 in the maintenance of podocyte structure via its association with Wtip (show WTIP Proteins) and in the regulation of WT1 (show WT1 Proteins) signaling during early kidney development
ASXL1 truncation mutations confer gain-of-function on the ASXL-BAP1 (show BAP1 Proteins) complex.
Asxl1-/- fetuses have reduced body weight and display cleft palate, anophthalmia as well as ventricular septal defects and a failure in lung maturation.
Asxl1 functions as a tumor suppressor to maintain hematopoietic cell homeostasis
C-terminal-truncating Asxl1 mutations inhibited myeloid differentiation and induced myelodysplastic syndrome-like disease
Constitutive loss of Asxl1 results in developmental abnormalities, including anophthalmia, microcephaly, cleft palate, and mandibular malformations. Hematopoietic-specific deletion results in cytopenia and dysplasia with increased hematopoietic stem cells
ASXL1 represses, whereas ASXL2 increases, the expression of adipogenic genes, most of which are PPARgamma (show PPARG Proteins) targets
Asxl1 is needed for normal hematopoiesis.
Asxl1and Asxl2 are expressed as multiple transcripts, at varying levels, in adult tissues and in embryonic stem cells analyzed by Northern blot, and exhibit similar expression patterns suggesting they may be co-regulated
Mutations in genes associated with epigenetic regulations such as DNMT3A (show DNMT3A Proteins) and ASXL1 seem to play an important role in the pathogenesis of CML (show BCR Proteins) progression and TKI-resistance independent of ABL1 (show ABL1 Proteins) KD mutations
mutations in the SRSF2 (show SRSF2 Proteins)/ASXL1/RUNX1 (show RUNX1 Proteins) gene panel identified as significant prognostic markers in systemic mastocytosis
It was found that the absence of mutations in the SRSF2 (show SRSF2 Proteins), ASXL1, and/or RUNX1gene panel at baseline and a reduction of the KIT D816V allele burden more than 25% at month 6 are the most favorable predictors for improved survival in midostaurin-treated advanced systemic mastocytosis patients.
Mutation in ASXL1 gene is associated with chronic myelomonocytic leukemia.
ASXL1 mutation is associated with acute myeloid leukemia (show BCL11A Proteins).
We examined all ASXL1 truncating variants in the ExAC database and determined most are likely somatic. Failure to consider somatic mosaicism may lead to the inaccurate assumption that conditions like BOS have reduced penetrance, or the misclassification of potentially pathogenic variants.
ASXL1 Circular RNA is Produced by Splicing from its pre-mRNA.
We conclude that ASXL1 is essential for erythroid development and differentiation and that the aberrant differentiation is, at least in part, facilitated via PRC2.
Demonstration of ASXL1 mutation, a putative tumor suppressor gene, represents an important molecular abnormality in CML (show BCR Proteins). Authors also showed that concomitant detection of BCR-ABL (show ABL1 Proteins) and JAK2V617F mutations has a relatively high incidence in Iranian patients.
This study showed ASXL1 exon 12 mutations in 16 of 70 (23%) patients with myelofibrosis, with 11 different mutations found in these patients.
This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants.
additional sex combs like 1
, additional sex combs-like protein 1
, putative Polycomb group protein ASXL1